Hope, Plane Rides and Research

It didn’t come from me. I have to admit I could never pull it off like he does. It must be because he’s half-French (his mother’s half.) Last Sunday, we had a cook-out with a family of friends at Fort Wilderness in Disney World. My 8-year-old son Lucas was at it again. Smooth. It didn’t take him long to catch the eye of a college-age girl. He took her shoes off. Before long he was riding around the campground in a golf cart with the other kids. She was driving; he was riding shot-gun. That’s my boy. The cutest little boy on the planet. Although he can say only a few words, I knew he couldn’t be happier.

Lucas has autism and some researchers find him interesting. A sample of Lucas’ DNA was tested by a commercial lab a few years ago for three autism suspect genes. Sequencing tests for the genes (CDKL5, Cntnap2 and Shank 3) were among the first to be performed. The results are what researchers find interesting — unusual variants or mutations in two of the genes-Shank3 and Cntnap2. These results also changed our lives — we left a world where things were increasingly desperate and entered a world of new found hope. Some now say Lucas may be one of the most researched children with autism in the country.

Like many parents, Marie and I spend a lot of effort trying to get the best for our child. Like many kids, Lucas’ day is filled with “activities,” although if he could speak well enough, I think he would call it “work.” He puts in a tough week – long hours of special education, speech therapy, occupational therapy, and applied behavioral therapy. But he also has some fun — “special kids” dance class on Saturday and some gym classes.

As I write this, skin cells from Lucas, Marie and me are being converted to Pluripotent stem cells at a laboratory at Stanford University. From these stem cells, the researchers will grow neuronal tissue. The research is aimed at developing drugs to improve the outcomes of many children. Another study, a paper concerning a variant in Lucas’ Shank3 gene, has already been published. We have been invited to join another study and there is other interest-full Exomic sequencing of autism suspect genes in Lucas.

Lucas has been to Boston Children’s Hospital-Harvard, Stanford University, Mt. Sinai Hospital in New York, and the Dan Marino Center in Miami. We have visited the Kennedy Krieger Center in Baltimore. Every time I see one of those “my kid made the honor roll at…” bumper stickers, I want to put a sticker on the back of my car listing all the places my kid has been to, followed by “so there!”

He’s my boy and I’m proud of him. Daddy knows; I tell him so when he gets real frustrated because he can’t speak. As hard as it is on Marie and me, it is incredibly difficult for him. We fear that this will not get any easier for him. What we know is that without effective research, it likely won’t.

Lucas can swim in our pool here in Orlando. He also loves his trampoline. The “It’s a small world after all” ride at Disney World is now second on Lucas’ list of cool things to do. First is going to the beach -especially during a “Surfers for Autism” event. These are closely followed by long airplane flights and jumping on hotel beds. The last time we went for a weekend at the beach, he threw a fit when we left-he’d just as soon hang out there indefinitely. I know the feeling.

But it is another feeling that stays with me most days. It is the feeling that when the day comes when I leave this world, I will have not done enough to make the difference needed for Lucas. This has got to be every parent’s worst nightmare — failing to be a good enough advocate. At 52, I already believe that I will never retire. I could spend my time fighting for insurance reform so that Marie and I wouldn’t have to come up with $25,000 to $35,000 each year for Lucas’ therapies and someday I could retire. Or I can spend more time doing what I can to advocate for the bigger agenda: finding effective therapeutics for children with autism.

So Marie and I pour over autism research. As part of the ongoing research concerning Shank 3 mutations, I am a proud member of the Phelan McDermid Syndrome (PMS) Research Support committee along with a group of very smart parents fighting with me to find help for our kids. Lucas does not have the deletion in chromosome 22 that causes PMS, but rather mutations in the Shank3 gene which researchers believe may cause autism.

I only wish that more parents would push for research into the dozens, if not hundreds, of autism suspect genes and the pathways that variants in these genes disrupt. I also have hopes. Hopes that more sequencing will be available and affordable in the near future. That Pluripotent stem cell, brain imaging and genetics research will answer many of the questions needed to move into effective drugs. And that research concerning speech, occupational and ABA and other psychological therapies yields improved outcomes for our children.

After watching a WWII movie last Memorial Day, I began pondering the notion of “the greatest generation.” I also recently read The Immortal Life of Henrietta Lacks about He La cells and the Herculean effort our country undertook to beat polio. I believe it is this generation’s challenge to beat the developmental disability that is autism. We are on the cusp of major findings into the causes and potential treatments for autism. Trials are underway using experimental drugs to combat Fragile X and Rett syndromes. Research is implicating mutations in many of the same genes affected in other disorders with disrupted chromosomes, disorders in which classic autism exists- such as PMS. Common pathways are emerging in the literature. For a segment of the population, we now know what causes autism. The first studies concerning children and multiple autism suspect gene mutations have been published.

It matters. What we know, where we go, how we get there. That is the sentiment on the faces of parents we meet involved in research and support for their children on the spectrum. Parents who would move heaven and earth to help their kids. A hope that comes with research.

Yes Nancy there are multiple genetic links now known. Some say up to 30% of children on the spectrum have genetic mutations and disruptions in which autism has been associated. This number will likely go higher as more research is conducted.

As for the lack of rational media coverage concerning Autism; my own opinion is that unless there is a “bad guy” and a controversy to sensationalize the media won’t play. Sad-since that makes the media the “bad guy” with parents and their kids the victims.

For Richard- I had to laugh at all the similarities between your son Lucas and our son Nico.Both love water and the freedom it affords them.They too enjoy long rides and pretty girls.Both are primarily non verbal and are becoming increasingly frustrated from not being able to verbalize their needs and wants.I’m not sure how I would find out what the genetic markers are though for his autism.How does one find this out? Another blood test or can the DNA from his amnio be utilized ? I also read the book you mentioned and have asked the same questions you pose.If they can isolate, grow and hypothesize how autism occurs we are a step closer to finding out how to prevent it.Perhaps Lucas will be known as the frontier of autism gene islation and treatment, wouldnt it be a hoot? He would be known as LuFa, wow! I want to know how to find out the genetic components involved in my sons biochemistry lent to his diagnosis.Can you give me some guidance in this matter Richard?

The short answer is push. I am blessed to have a wife who does not take “no” for an answer. Lucas has an abnormal EEG and therfore sees a neurologist as he is at risk of having siezures. My wife pushed her (the neurologist) hard enough that she sent us to see a neurologist at Boston’s Children Hospital-which is associatied with her alma mata-Harvard.
The BCH neurologists suggested a micro array and sequencing for the only commercially available (at the time) ASD suspect genes. The results were astounding. Nothing showed up on the microarray-but eventually three “Mutations” -two on Shank three and one on CNTNAP2.

Frankly the odds of this are extremely long and i do not necessarily endorse this as it is very expensive with little help from insurance. Also, the study published concerning Lucas disputes the Etiology of the most significant Variant. FYI- a variant is simply a sequence in DNA that is unusual-it is a “Mutation” when it can be proven it is disease causing. Many of the other researchers i have spoken with do not agree with the published study. That is the nature of Research-if they knew for sure it would no longer be research.

My advice would be to wait until sequencing for more ASD suspect genes are offered by commercial labs as a panel. This is soon. The cost will come down as more do it and the odds of a hit improved by sequencing more genes.

Not an endorsement-(as Walter Brennan used to say “no brag just fact”) but the lab we used was Athena Labs-they are online.

My son is non-verbal as well..I can only wish that I will one day hear his voice..He is still only 5 and getting lots of therapies..I hope they can find effective trmts for autism..I saved my son’s umbilical cord(stem cells)..I’m just hoping they can find a way to utilize stem cells for our children..

Thank you Richard for your story. Having a son on the specturm I know that everyday brings a new challenge,but with people like you we can win this fight.
With Autism Votes on our side we can work on getting that insurance reform in Fla. And with Autism Speaks we have someone on our side to look into what the causes are that create what autism is. So yes with a postive atitude it will get done. Best of luck with your son.

Excellent article. My autistic daughter is often the life of the party as well. It is amazing how much has changed about the perceptions of the abilities and possibilities for a person on the spectrum. What we never thought possible is now expected. What we never dared to dream is now hoped for.

A favorite line of mine comes from an old John Prine Song-The Late John Garfield Blues; “old men sleep with their conscience at night while young kids sleep with their dreams-but the mentally ill sit perfectly still and live through life’s in-betweens”. I think it must be up to dad’s like you and me job to keep dreaming. Our kids dreams are far more important than life’s “in-betweens”. Thanks for writing.

VERY WELL SAID,MY GRANDSON DREW IS ONLY 3 YEARS ,HE IS SO SMART IT BREAKS MY HEART THAT HE CAN’T SPEAK. HE TO HAS WONDERFUL PARENTS THAT JUST WON’T GIVE UP ON HIM. NONE OF US WILL ,WISH I COULD LIVE TO 150 YERS OLD SO I COULD ALWAYS BE THERE FOR HIM. A LOVING GRANDMOTHER

Great article. Yes, push legislators! This government is out of control. Giving billions in loans to failing companies is horrible. As well as supporting a state-of-the-art B2 bomber we couldn’t use going into a third world country. Legislators need to be told to prioritize: kids first, adult diseases next, B2 bomber last and Solyndra’s last. American citizens and especially children deserve better.

Thank you for sharing your story and I hope that the pace of research speeds up to the level which it most certainly could and definitely should. I do know from personal experience (my son was born with a heart defect but he is now thankfully in good health ) how difficult it is to constantly be an advocate for your child. The battle is constant. I wish you, your wife and Lucas all the best and hope that he has many happy times on It’s A Small World.

Interesting, but after having our 21 yr old son who has been diagnosed with ‘classis autism’ since age 2, we were told that there were NO ABNORMALITIES with his DNA! That’s right, no mutations! Genetics is NOT the only cause…….

Thank you for writing. I agree with you that genetics is not the only cause. I also think that you need to understand that studying the genetics of autism is a critical way forward to developing therapeutics for patients with Autism. What genetic studies bring is a way to understand what is differant and therfore fix it. Much of medical science today, for all kinds of disease, is studying genetics for this same reason. Genes make proteins and proteins make body parts. Autism is a disease of the synapse. By understanding the genes that make the proteins that make sysnapses drugs can be developed that improve the proteins in individual neurons-irregardless of whether some dna test says “no mutations”. New mutations are being discovered all the time. Genes believed Normal may in combination be Abnormal-time will only tell. It is the chemistry thatr an affectthes proteins that is must important

good story. Richard. With Autism Votes on our side, we can work on getting that insurance reform Florida with Autism Speaks And we have someone on our side to look into what the cause is that creating what autism.